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Case Reports
. 2022 Mar 15;22(1):93.
doi: 10.1186/s12883-022-02611-7.

A case report of Sanfilippo syndrome - the long way to diagnosis

Delia Lorenz  1   2 , Thomas Musacchio  1   3 , Erdmute Kunstmann  4 , Eva Grauer  4 , Natalie Pluta  4 , Annika Stock  5 , Christian P Speer  2 , Helge Hebestreit  6   7
Affiliations
Case Reports

A case report of Sanfilippo syndrome - the long way to diagnosis

Delia Lorenz et al. BMC Neurol. .

Abstract

Background: Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is characterized by early nonspecific neuropsychiatric symptoms, followed by progressive neurocognitive impairment in combination with only mild somatic features. In this patient group with a broad clinical spectrum a significant genotype-phenotype correlation with some mutations leading to a slower progressive, attenuated course has been demonstrated.

Case presentation: Our patient had complications in the neonatal period and was diagnosed with Mucopolysaccharidosis IIIa only at the age of 28 years. He was compound heterozygous for the variants p.R245H and p.S298P, the latter having been shown to lead to a significantly milder phenotype.

Conclusions: The diagnostic delay is even more prolonged in this patient population with comorbidities and a slowly progressive course of the disease.

Keywords: Diagnostic delay; Genotype-phenotype correlation; Mucopolysaccharidosis IIIa; p.R245H; p.S298P.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Brain MRI at the age of 28 years. Transversal T2-weighted image (A) shows ventriculomegaly and enlarged cortical sulci due to brain atrophy. There is associated enlargement of the perivascular spaces (arrows). B Fluid-attenuated inversion recovery (FLAIR) sequence shows only a slight periventricular increase in signal intensity, which can be attributed to hypothetical dysmyelination. On 3D-T1-weighted images, sagittal reconstruction (C) demonstrates a thin corpus callosum and coronal reconstruction (D) shows the convincingly reduced volume of the supratentorial hemispheres, whereas the cerebellum appears normal
See this image and copyright information in PMC

References

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